ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573056699
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000637617
RCV000989022
RCV001186730
ClinVar Variation:
531353
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Cys1159Arg
CA387776824
NM_000059.4:c.3475T>C